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Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.
Pinós T, Melià MJ, Ortiz N, Martinez-Vea A, Raventós-Estellé A, Gallardo E, Hernández-Losa J, Cámara Y, Andreu AL, García-Arumí E. Pinós T, et al. Among authors: camara y. Neuromuscul Disord. 2013 Apr;23(4):330-6. doi: 10.1016/j.nmd.2013.01.001. Epub 2013 Jan 31. Neuromuscul Disord. 2013. PMID: 23375258
Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
Carreño-Gago L, Gamez J, Cámara Y, Alvarez de la Campa E, Aller-Alvarez JS, Moncho D, Salvado M, Galan A, de la Cruz X, Pinós T, García-Arumí E. Carreño-Gago L, et al. Among authors: camara y. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27613247 Free article.
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R. Ramón J, et al. Among authors: camara y. Int J Mol Sci. 2021 Jun 16;22(12):6447. doi: 10.3390/ijms22126447. Int J Mol Sci. 2021. PMID: 34208592 Free PMC article. Review.
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL. Nogales-Gadea G, et al. Among authors: camara y. PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9. PLoS One. 2012. PMID: 22347505 Free PMC article.
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Cámara Y, et al. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts.
Pinós T, Fuku N, Cámara Y, Arai Y, Abe Y, Rodríguez-Romo G, Garatachea N, Santos-Lozano A, Miro-Casas E, Ruiz-Meana M, Otaegui I, Murakami H, Miyachi M, Garcia-Dorado D, Hinohara K, Andreu AL, Kimura A, Hirose N, Lucia A. Pinós T, et al. Among authors: camara y. Age (Dordr). 2014 Apr;36(2):933-43. doi: 10.1007/s11357-013-9593-0. Epub 2013 Oct 28. Age (Dordr). 2014. PMID: 24163049 Free PMC article.
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R. Torres-Torronteras J, et al. Among authors: camara y. Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4. Hum Gene Ther. 2016. PMID: 27004974 Free PMC article.
64 results